S3673 Colonic Intussusception as the Initial Presentation of Colon Cancer in a Patient With Osteogenesis Imperfecta: A Rare Case Report

Introduction: Intussusception in adults is rare, accounting for approximately 5% of all intussusception cases and less than 1% of all bowel obstructions. When it occurs in the colon, it is often associated with an underlying malignancy and typically presents in the fifth or sixth decade of life. Unlike pediatric intussusception, adult cases require a high index of suspicion and frequently necessitate surgical intervention. While connective tissue disorders such as osteogenesis imperfecta (OI) are linked to gastrointestinal motility issues like constipation, there is no established correlation between OI, malignancy, or intussusception. Case Description/Methods: A 40-year-old man with a complex medical history including end-stage renal disease (on hemodialysis), hypertension, schizoaffective disorder, CHF, seizures, asthma, osteogenesis imperfecta, and prior cerebrovascular accident without deficits, presented with right upper quadrant and epigastric pain accompanied by hematochezia. He was hemodynamically stable, with mild tenderness in the right upper quadrant and no peritoneal signs. Initial computed tomography imaging revealed colonic wall thickening and a right-sided colonic intussusception, raising concern for an underlying mass. A confirmatory computed tomography (CT) with oral contrast was consistent with these findings. Surgical consultation was obtained to determine whether colonoscopy or direct surgery was appropriate. Given his stable presentation, colonoscopy was performed and revealed a likely malignant mass at the hepatic flexure with transverse colon ulceration. Biopsies were obtained and surgical resection is planned. Discussion: Adult colonic intussusception is most commonly caused by an underlying neoplasm, with adenocarcinoma being the predominant etiology. While emergent surgery is indicated in unstable patients, stable individuals without signs of peritonitis may benefit from preoperative endoscopic evaluation to localize the lesion and guide surgical planning. This case also raises the rare intersection of colonic malignancy and osteogenesis imperfecta. While OI is classically linked to mutations in COL1A1 and COL1A2 genes—encoding type I collagen—these same genes have been implicated in the tumor microenvironment and progression of colorectal cancer. The involvement of COL1A1 in both extracellular matrix structure and tumor metastasis suggests a potential molecular link that merits further research. To our knowledge, this is one of the first reported cases of colonic intussusception due to colon cancer in a patient with OI.